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Transcription profiling of human neural crest cells

ABSTRACT: The expression profiles of five human trunk level neural crest cell lines were determined on Affymetrix chips HG U133 Plus 2.0. Experiment Overall Design: Total RNA was extracted from a confluent 10 cm dish of hNCC (lines N1-N5) from five human embryos at 26-32 dpf (Carnegie stages 12 & 13).

ORGANISM(S): Homo sapiens

SUBMITTER: Heather Etchevers

PROVIDER: E-GEOD-14340 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

de Pontual Loïc L Zaghloul Norann A NA Thomas Sophie S Davis Erica E EE McGaughey David M DM Dollfus Hélène H Baumann Clarisse C Bessling Seneca L SL Babarit Candice C Pelet Anna A Gascue Cecilia C Beales Philip P Munnich Arnold A Lyonnet Stanislas S Etchevers Heather H Attie-Bitach Tania T Badano Jose L JL McCallion Andrew S AS Katsanis Nicholas N Amiel Jeanne J

Proceedings of the National Academy of Sciences of the United States of America 20090731 33

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we report 3 families with BBS and HSCR with concomitant mutations in BBS genes and regulatory RET elements, whose functionality is tested in physiologica ...[more]

PMID: 19666486

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